RPL15 gene related symptoms and diseases
All the information presented here about the RPL15 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPL15 gene
Symptoms // Phenotype | % Cases |
---|---|
Growth delay | Very Common - Between 80% and 100% cases |
Reticulocytopenia | Very Common - Between 80% and 100% cases |
Anemia | Very Common - Between 80% and 100% cases |
Increased mean corpuscular volume | Very Common - Between 80% and 100% cases |
Ventricular septal defect | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RPL15 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Macrocytic anemia
- Triphalangeal thumb
Not very common - Between 30% and 50% cases
- Abnormality of the urinary system
- Ventricular hypertrophy
- Thick lower lip vermilion
- Depressed nasal ridge
- Mitral regurgitation
- Abnormality of the genital system
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPL15 gene
Here you will find a list of rare diseases related to the RPL15. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BLACKFAN-DIAMOND ANEMIA
Alternate names
BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type, congenital pure red cell aplasia, aase-smith syndrome ii, congenital prca, aase-smith ii syndrome, aase syndrome
Description
Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.
Most common symptoms of BLACKFAN-DIAMOND ANEMIA
- Short stature
- Growth delay
- Hypertelorism
- Neoplasm
- Failure to thrive
More info about BLACKFAN-DIAMOND ANEMIA
DIAMOND-BLACKFAN ANEMIA 12; DBA12
Description
Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of DBA, see DBA1 (OMIM ).
Most common symptoms of DIAMOND-BLACKFAN ANEMIA 12; DBA12
- Growth delay
- Anemia
- Ventricular septal defect
- Triphalangeal thumb
- Macrocytic anemia
More info about DIAMOND-BLACKFAN ANEMIA 12; DBA12
SOURCES: OMIM
Search interest in RPL15
Potential gene panels for RPL15 gene
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) that also includes the following genes: RMRP RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24
More info about this panelDiamond-Blackfan anemia panel by next-generation sequencing (NGS) Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Diamond-Blackfan anemia panel by next-generation sequencing (NGS) that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panelRPL15 Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the RPL15 gene.
More info about this panelInherited Bone Marrow Failure Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panelDiamond-Blackfan Anemia Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Diamond-Blackfan Anemia Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panelHereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panelDiamond-Blackfan anemia (NGS panel of 18 genes) Panel
By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panelDiamond-Blackfan anemia (NGS panel of 18 genes) Panel
By CGC Genetics Diamond-Blackfan anemia (NGS panel of 18 genes) that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panelDiamond-Blackfan Anemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Diamond-Blackfan Anemia Sequencing Panel with CNV Detection that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panelDiamond-Blackfan Anemia and Bone Marrow Failure via RPL15 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the RPL15 gene.
More info about this panelDiamond-Blackfan anemia NGS panel Panel
By Connective Tissue Gene Tests Diamond-Blackfan anemia NGS panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panelDiamond-Blackfan anemia Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Diamond-Blackfan anemia Deletion / Duplication panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panelDiamond-Blackfan anemia Comprehensive panel Panel
By Connective Tissue Gene Tests Diamond-Blackfan anemia Comprehensive panel that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
More info about this panelDiamond-Blackfan anemia type 12 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the RPL15 gene.
More info about this panelDiamond-Blackfan anemia type 12 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the RPL15 gene.
More info about this panelNGS Panel for Diamond-Blackfan Anemia Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Diamond-Blackfan Anemia that also includes the following genes: RPL11 RPL15 RPL19 RPL26 RPL27 RPL31 RPL35A RPL5 RPL9 RPS10
More info about this panelComprehensive Hematology Panel Panel
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panelDiamond-Blackfan Anemia Panel Panel
By Blueprint Genetics Diamond-Blackfan Anemia Panel that also includes the following genes: RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29 RPS7
More info about this panelBone Marrow Failure Syndrome Panel Panel
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelAnemia Panel Panel
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panelInherited Bone Marrow Failure Panel Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panelBLACKFAN-DIAMOND ANEMIA: NGS PANEL Panel
By Laboratorio de Genetica Clinica SL BLACKFAN-DIAMOND ANEMIA: NGS PANEL that also includes the following genes: RPL11 RPL15 RPL26 RPL27 RPL31 RPL35A RPL5 RPS10 RPS17 RPS19
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